UTILITY OF CARDIAC MRI IN THE DIAGNOSIS OF ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY IN HUTTERITE DSC2 MUTATION CARRIERS

Abstract

cardiac FDG uptake, including 2 that had received prior steroid therapy. Five out of 8 patients with negative cardiac biopsy had abnormal cardiac FDG uptake. While 13 (65%) patients had confirmed or high suspicion of CS after multimodality testing and biopsy, only 2 (10%) met the JMHW diagnostic criteria. FDG-PET influenced management in 14 (70%) patients: by helping initiate, continue, or change steroid dosage in 3 (15%) patients, and by allowing discontinuation or lack of initiation of treatment in 11 (55%) patients on the basis of negative FDG-PET. Of the remaining 6 (30%) patients, either no treatment was given despite an abnormal FDG uptake in 2 patients due to clinically silent disease, or treatment decisions were not yet finalized. CONCLUSION: In our series, FDG-PET aided in treatment decisions in patients suspected of CS. Due to its ability to assess disease activity and monitor response to therapy, FDG-PET adds value beyond conventional testing, and its use is advocated in cases with high suspicion of CS.